MYOC c.1150G>C ;(p.D384H)

Variant ID: 1-171605430-C-G

NM_000261.1(MYOC):c.1150G>C;(p.D384H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cytochrome P450 1B1: role in health and disease and effect of nutrition on its expression.

Rsc Advances
Shah, Bakht Ramin BR; Xu, Wei W; Mraz, Jan J
Publication Date: 2019-07-01

Variant appearance in text: MYOC: D384H
PubMed Link: 35515562
Variant Present in the following documents:
  • Main text
  • RA-009-C9RA03674A.pdf
View BVdb publication page



Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.

Scientific Reports
Huang, Chukai C; Xie, Lijing L; Wu, Zhenggen Z; Cao, Yingjie Y; Zheng, Yuqian Y; Pang, Chi-Pui CP; Zhang, Mingzhi M
Publication Date: 2018-03-14

Variant appearance in text: MYOC: 1150G>C; D384H
PubMed Link: 29540704
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_22337.pdf
View BVdb publication page